Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis

MA Dyer, SL Donovan, J Zhang, J Gray, A Ortiz… - Molecular brain …, 2004 - Elsevier
Leber congenital amaurosis (LCA) is the most severe inherited retinopathy, with the earliest
age of onset. Because this currently incurable disease is present from birth and is a
relatively rare disorder, the development of animal models that closely resemble the
phenotype in patients is especially important. Our previous genetic analyses of LCA patients
identified mutations in the aryl-hydrocarbon interacting protein-like 1 (AIPL1) gene. Here we
present development of an animal model of AIPL1-associated LCA, the Aipl1-deficient …